A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity
Titel:
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity
Auteur:
Mohamed, Fedah E. Al Sorkhy, Mohammad Ghattas, Mohammad A. Al-Zaabi, Nuha Al-Shamsi, Aisha Almansoori, Taleb M. Al-Gazali, Lihadh Al-Dirbashi, Osama Y. Al-Jasmi, Fatma Ali, Bassam R.